Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants

We studied a family in which the first-born child, a girl, had developmental delay, facial dysmorphism, and agenesis of the corpus callosum (ACC). The subsequent pregnancy was interrupted as the fetus was found to be also affected by ACC. Both cases were heterozygous for two KDM5B variants predictin...

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Detalles Bibliográficos
Autores principales: Lebon, Sébastien, Quinodoz, Mathieu, Peter, Virginie G., Gengler, Carole, Blanchard, Gaëlle, Cina, Viviane, Campos-Xavier, Belinda, Rivolta, Carlo, Superti-Furga, Andrea
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8467522/
https://www.ncbi.nlm.nih.gov/pubmed/34573379
http://dx.doi.org/10.3390/genes12091397

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8467522/
https://www.ncbi.nlm.nih.gov/pubmed/34573379
http://dx.doi.org/10.3390/genes12091397

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